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    GJA5 gap junction protein alpha 5 [ Homo sapiens (human) ]

    Gene ID: 2702, updated on 17-Jun-2024

    Summary

    Official Symbol
    GJA5provided by HGNC
    Official Full Name
    gap junction protein alpha 5provided by HGNC
    Primary source
    HGNC:HGNC:4279
    See related
    Ensembl:ENSG00000265107 MIM:121013; AllianceGenome:HGNC:4279
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CX40; ATFB11
    Summary
    This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 23.7), lung (RPKM 11.2) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GJA5 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (147756199..147773351, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (147034309..147051468)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (147228332..147245455, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 261, pseudogene Neighboring gene uncharacterized LOC105371230 Neighboring gene uncharacterized LOC102723321 Neighboring gene VISTA enhancer hs2126 Neighboring gene Sharpr-MPRA regulatory region 3144 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147305372-147305981 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147305982-147306592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:147309262-147309858 Neighboring gene PRAME family member 17 pseudogene Neighboring gene gap junction protein alpha 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Atrial fibrillation, familial, 11
    MedGen: C3279693 OMIM: 614049 GeneReviews: Not available
    Compare labs
    Atrial standstill 1
    MedGen: C4551959 OMIM: 108770 GeneReviews: Not available
    Compare labs
    Chromosome 1q21.1 deletion syndrome
    MedGen: C2675897 OMIM: 612474 GeneReviews: 1q21.1 Recurrent Microdeletion
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2012-02-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2012-02-23)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC11185

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables connexin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables disordered domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables gap junction channel activity involved in atrial cardiac muscle cell-AV node cell electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables gap junction channel activity involved in cardiac conduction electrical coupling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gap junction channel activity involved in cardiac conduction electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables gap junction hemi-channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in AV node cell to bundle of His cell communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in SA node cell to atrial cardiac muscle cell communication by electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in angiogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in atrial septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within cardiac conduction system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell communication by chemical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell communication by electrical coupling involved in cardiac conduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gap junction assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gap junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitral valve development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of glomerular filtration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell communication by chemical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pulmonary valve formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of AV node cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Purkinje myocyte action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of atrial cardiac muscle cell membrane depolarization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of bundle of His cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell communication by electrical coupling IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of regulation of ventricular cardiac muscle cell membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of regulation of ventricular cardiac muscle cell membrane repolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasomotion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of connexin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of connexin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in gap junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intercalated disc TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    gap junction alpha-5 protein
    Names
    connexin 40
    gap junction protein alpha 5 40kDa

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009369.2 RefSeqGene

      Range
      17773..22176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005266.7NP_005257.2  gap junction alpha-5 protein

      See identical proteins and their annotated locations for NP_005257.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript. Variants A and B encode the same protein.
      Source sequence(s)
      AF074995, BC013313, BM970701, BQ924948, DR003194
      Consensus CDS
      CCDS929.1
      UniProtKB/Swiss-Prot
      P36382, Q5T3B6, Q5U0N6
      UniProtKB/TrEMBL
      A0A024QZ37, X5D2H9
      Related
      ENSP00000484552.1, ENST00000621517.1
      Conserved Domains (2) summary
      pfam00029
      Location:3211
      Connexin
      pfam16791
      Location:258358
      Connexin40_C; Connexin 40 C-terminal domain
    2. NM_181703.4NP_859054.1  gap junction alpha-5 protein

      See identical proteins and their annotated locations for NP_859054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) differs in the 5' UTR compared to variant A. Variants A and B encode the same protein.
      Source sequence(s)
      AF074995, BC013313, BM970701, BX377692
      Consensus CDS
      CCDS929.1
      UniProtKB/Swiss-Prot
      P36382, Q5T3B6, Q5U0N6
      UniProtKB/TrEMBL
      A0A024QZ37, X5D2H9
      Related
      ENSP00000463851.1, ENST00000579774.3
      Conserved Domains (2) summary
      pfam00029
      Location:3211
      Connexin
      pfam16791
      Location:258358
      Connexin40_C; Connexin 40 C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      147756199..147773351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      147034309..147051468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)